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ERBB2 R599C variant is associated with left ventricular outflow tract obstruction defects in human

ABSTRACT: Non-syndromic congenital heart defects (CHD) are occasionally familial and left ventricular out flow tract obstruction (LVOTO) defects are among the subtypes with the highest hereditability. The aim of this study was to evaluate the pathogenicity of a heterozygous ERBB2 variant R599C identified in three families with LVOTO defects.

ORGANISM(S): Homo sapiens

PROVIDER: GSE247858 | GEO | 2024/12/14

REPOSITORIES: GEO

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ERBB2 R599C variant is associated with left ventricular outflow tract obstruction defects in human

Project description:Non-syndromic congenital heart defects (CHD) are occasionally familial and left ventricular out flow tract obstruction (LVOTO) defects are among the subtypes with the highest hereditability. The aim of this study was to evaluate the pathogenicity of a heterozygous ERBB2 variant R599C identified in three families with LVOTO defects.

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ERBB2 R599C variant is associated with left ventricular outflow tract obstruction defects in human

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